北京大学学报(医学版) ›› 2019, Vol. 51 ›› Issue (3): 422-429. doi: 10.19723/j.issn.1671-167X.2019.03.008

• 论著 • 上一篇    下一篇

光敏性强直阵挛发作:局灶性及全面性发作的统一体

卢娇杨,薛姣,龚潘,海坡,杨志仙()   

  1. 北京大学第一医院儿科,北京 100034
  • 收稿日期:2019-03-18 出版日期:2019-05-10 发布日期:2019-06-26
  • 作者简介:杨志仙,医学博士,北京大学第一医院儿科研究员、副教授、博士研究生导师,专业为儿科神经及神经电生理。2010年在荷兰国家癫痫研究所及乌特勒支大学癫痫遗传中心做访问学者。近年以第一作者或通信作者发表SCI论著25篇,核心期刊40余篇。目前主持在研国家自然科学基金面上项目及首都临床特色应用研究与成果推广项目各一项。曾主持北京大学医学-信息科学交叉学科种子基金,北京大学-清华大学生命科学联合中心临床人才培育项目。
    研究方向和科研成果:以吡哆醇依赖性癫痫为切入点,首先在国内建立了维生素B6相关性癫痫的诊断流程,与美国埃默里大学合作开展吡哆醇依赖性癫痫患儿的特殊饮食治疗,推动维生素B6相关的多种罕见病的诊断、治疗及研究进程;对儿童睡眠中癫痫性电持续状态疾病谱的临床、电生理、神经心理、遗传学及脑网络等多方面进行研究,推动了此类疾病的机制研究及优化诊治。
  • 基金资助:
    国家自然科学基金(81771393)、北京大学医学-信息科学交叉研究种子基金(BMU20160586)-中央高校基本科研业务费、北京市科学技术委员会资助项目(Z171100001017125)

Photosensitive tonic-clonic seizures:a continuum between focal and generalized seizures

Jiao-yang LU,Jiao XUE,Pan GONG,Hai-po YANG,Zhi-xian YANG()   

  1. Department of Pediatrics,Peking University First Hospital,Beijing 100034, China
  • Received:2019-03-18 Online:2019-05-10 Published:2019-06-26
  • Supported by:
    Supported by the National Natural Science Foundation of China(81771393), the Fundamental Research Funds for the Central Universities: Peking University Medicine Seed Fund for Medicine-Information Interdisciplinary Research (BMU20160586), the Beijing Municipal Science and Technology Commission (Z171100001017125)

摘要: 目的 探讨间断闪光刺激(intermittent photic stimulation,IPS)诱发的强直阵挛发作(tonic-clonic seizures,TCS)是全面强直阵挛发作(generalized tonic-clonic seizures,GTCS)还是局灶继发全面强直阵挛发作(partial secondarily generalized tonic-clonic seizures,PGTCS)的性质,分析两者之间的关系。 方法 对2010年3月至2018年10月于北京大学第一医院儿科脑电图病房进行视频脑电图(video electroencephalographic,VEEG)监测的病例进行回顾,共纳入15例在IPS时诱发出TCS的特发性癫痫患儿,对其临床和脑电图特点进行研究。 结果 15例中男4例,女11例,癫痫起病年龄1~13岁。根据病史归纳出的发作类型为:12例GTCS,3例PGTCS。VEEG监测时年龄 2.5~16.0岁,VEEG背景图形均正常。发作间期放电:11例广泛性放电为主,其中4例共存后头部放电,2例共存Rolandic区放电,5例仅有广泛性放电;2例仅有限局性放电,其中1例限局在Rolandic区、1例限局在后头部;其余2例未监测到间期放电。IPS诱发光阵发性反应(photoparoxysmal response,PPR)结果:2例未监测到PPR,余13例PPR为广泛性放电,其中6例共存后头部放电。IPS诱发的光惊厥性反应(photoconvulsive response,PCR)结果:15例均诱发了以TCS为主的PCR,具体包括:1例GTCS(与病史不一致),11例PGTCS(仅2例与病史一致),3例难以明确区分是GTCS还是PGTCS。上述3种情况中,有7例在IPS诱发出TCS前先诱发了全面性肌阵挛发作。 结论 通过病史确定TCS是全面性还是局灶性常不可靠;IPS诱发的TCS多为PGTCS而非GTCS;肌阵挛发作与PGTCS可以共存,且有时GTCS和PGTCS难以区分,这些都提示了癫痫发作“二分法”的分型观点有待改变;光敏性TCS更应被视为介于局灶性发作和全面性发作之间的连续统一体。

关键词: 特发性癫痫, 间断闪光刺激, 光敏性, 强直阵挛发作

Abstract:

Objective: To investigate whether the tonic-clonic seizure(TCS) induced by intermittent photic stimulation(IPS)was generalized tonic-clonic seizure (GTCS)or partial secondarily tonic-clonic seizure(PGTCS),and to analyze the relationship between them. Methods: Video-electroencephalogram(VEEG)database of Peking University First Hospital from March 2010 to October 2018 were reviewed. Fifteen cases with idiopathic epilepsy who had TCS induced by IPS were included in this study, and their clinical and electroencephalogram(EEG)characteristics were retrospectively analyzed. Results: In this study, 4 of the 15 cases were boys and 11 were girls. The age of seizure onset ranged from 1 to 13 years. According to the medical records: 12 cases were considered as GTCS,while the remaining 3 cases were considered as PGTCS. The age at VEEG monitoring ranged from 2.5 to 16.0 years. All backgrounds of the VEEG were normal. Interictal discharges:generalized discharges in 11 cases,of which 4 cases coexisted with posterior discharges, 2 cases coexisted with Rolandic discharges, the other 5 cases merely had generalized discharges;merely focal discharges in two cases,one in the Rolandic area and the other in the posterior area;no interictal discharge in the remaining 2 cases. IPS induced photoparoxysmal response(PPR)results: 2 cases without PPR,the remaining 13 cases with PPR of generalized discharges,and 6 of the 13 cases coexisted with posterior discharges. IPS induced photoconvulsive response(PCR)results:GTCS in one case (contradictory to medical history),PGTCS in 11 cases (consistent with medical history),and GTCS and PGTCS hardly to distinguish in the remaining 3 cases. Of the three conditions above, there were generalized myoclonic seizures induced by IPS before TCS in 7 cases. Conclusion: The medical history was unreliable in determining whether TCS was generalized or focal. Myoclonic seizures can coexist with PGTCS, and sometimes GTCS was indistinguishable from PGTCS, indicating that the dicho-tomy of seizure types need to be improved. Photosensitive TCS should be regarded as a continuum between focal and generalized seizures.

Key words: Idiopathic epilepsy, Intermittent photic stimulation, Photosensitivity, Tonic-clonic seizure

中图分类号: 

  • R742.8

表1

15例患儿的一般临床特征"

No. Gender Age of onset Age at EEG
monitoring
AEDs used before
EEG monitoring
AEDs at EEG
monitoring
History of FS Family history of
epilepsy or FS
1 F 12 y 12 y - - - -
2 F 2 y 6 m 6 y LEV, VPA, NZP, LTG VPA, LTG - -
3 M 13 y 14 y - - - EP
4 M 12 y 14 y VPA VPA - -
5 M 6 y 11 y VPA, PB, CBZ VPA, PB, CBZ - -
6 F 10 y 11 y - - - FS
7 F 12 y 14 y LEV LEV - -
8 F 6 y 16 y VPA, LTG LTG - EP
9 F 1 y 2 y 6 m LEV, CZP, VPA, LTG, TPM LTG, CZP + EP
10 F 5 y 10 y - - + -
11 F 8 y 8 y - - - -
12 M 6 y 7 y VPA VPA - FS
13 F 5 y 9 y VPA, LEV VPA, LEV - -
14 F 7 y 9 y VPA, CBZ VPA, CBZ - EP
15 F 10 y 16 y VPA VPA - -

表2

15例病史中发作临床特征和监测到的电临床特征"

图1

例1,闭眼间断闪光刺激16 Hz诱发出全面强直阵挛发作,在其之前是一系列肌阵挛发作,临床表现为四肢快速抖动数下后四肢伸展强直后节律性抽动;发作期脑电图为广泛性棘慢波阵发数秒后广泛性电压下降,继而广泛性棘波节律混合大量肌电伪差伴慢波逐渐插入(平均导联)"

图2

例9,由睁眼间断闪光刺激 6 Hz诱发发作,临床表现为双眼凝视→眼睑节律性抽搐而后四肢僵硬和节律性抽动; 发作期脑电图为双侧后头部(图中箭头所指处)快波活动起始,双侧没有明显差异,逐渐扩散到临近导联并迅速泛化(平均导联)"

图3

例11,睁眼间断闪光刺激12 Hz诱发左枕起始局灶继发全面强直阵挛发作,发作期脑电图为左侧枕区(图中箭头所指)起始快波节 律性发放,波幅渐高、频率渐慢并逐渐插入慢波扩散至各个导联,临床表现为反应减低,双眼瞪大凝视→头向左侧偏转, 向后倾倒→双下肢伸直,双上肢屈曲稍用力→四肢节律性抖动(双极导联,蓝色为左侧,红色为右侧)"

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